1. Articles on neurology

Neurology

The goal of genetic testing for hereditary neurological diseases is to determine whether or not a patient has the disease, or is likely to develop it. Determining the molecular cause of a neurological disease can open the door to individually tailored treatment and medical care, and allow families to avoid invasive and often costly testing and procedures.

Articles on neurology

  • De novo ITPR1 variants are a cause of early-onset ataxia

    We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA).

  • Arthrogryposis

    Arthrogryposis is a clinical feature of joint contractures and resulting restriction of movements and is characteristic for more than 300 different disorders. Arthrogryposis, e.g. congenital contractures, can be isolated contractures, affecting only a single area of the body, or multiple. The most…

  • Evolution of outcome measures in spinocerebellar ataxias

    To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2, SCA3 and SCA6.

  • Familial hemiplegic migraine panel

    Familial hemiplegic migraine (FHM) is characterized by intense migraine headaches with aura.1. Onset of disease is in first or second decade of life. Positive family history of FHM is acknowledged if at least one first-degree relative or second-degree relative has identical attacks.

  • The first missense pathogenic variant in the KAT6A gene

    CENTOGENE published results of another successful collaborative study in the highly ranked Journal of Human Genetics titled: “A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.”